A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216744



Internal ID22362634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153364061..153398095hg38UCSC Ensembl
OuterchrX:152629519..152663553hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383011
hg193011
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269689, nssv14269688, nssv14269690, nssv14269686, nssv14269682, nssv14269687, nssv14269685, nssv14269683, nssv14269684
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216744
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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